MCID: CRN139
MIFTS: 46

Cornelia De Lange Syndrome 1

Categories: Genetic diseases, Rare diseases, Fetal diseases, Bone diseases, Eye diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Cornelia De Lange Syndrome 1

MalaCards integrated aliases for Cornelia De Lange Syndrome 1:

Name: Cornelia De Lange Syndrome 1 53 71 28 13
De Lange Syndrome 53 28
Cdls1 53 71
Typus Degenerativus Amstelodamensis 53
Amstelodamensis Typus Degenerativus 71
Brachmann-De Lange Syndrome; Bdls 53
Brachmann-De Lange Syndrome 53
Cdl; Cdls 53
Cdls 53
Bdls 53
Cdl 53

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
many cases due to de novo mutation or chromosome aberration
empiric risk for a sib of an affected child between 2 and 5%
prevalence of 0.6 to 10 per 100,000 individuals


HPO:

31
cornelia de lange syndrome 1:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Cornelia De Lange Syndrome 1

OMIM : 53 The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010). Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. (122470)

MalaCards based summary : Cornelia De Lange Syndrome 1, also known as de lange syndrome, is related to cornelia de lange syndrome and cornelia de lange syndrome 2, and has symptoms including seizures, low-set ears and short neck. An important gene associated with Cornelia De Lange Syndrome 1 is NIPBL (NIPBL, Cohesin Loading Factor), and among its related pathways/superpathways is Mitotic Telophase/Cytokinesis. The drugs Propranolol and Adrenergic Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, colon and heart.

UniProtKB/Swiss-Prot : 71 Cornelia de Lange syndrome 1: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies.

Related Diseases for Cornelia De Lange Syndrome 1

Diseases in the Cornelia De Lange Syndrome family:

Cornelia De Lange Syndrome 1 Cornelia De Lange Syndrome 2
Cornelia De Lange Syndrome 5 Cornelia De Lange Syndrome 3
Cornelia De Lange Syndrome 4

Diseases related to Cornelia De Lange Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cornelia de lange syndrome 27.2 CDL1 HDAC8 KMT2A NIPBL RAD21 TAF6
2 cornelia de lange syndrome 2 10.9
3 cornelia de lange syndrome 5 10.9
4 roberts syndrome 9.4 NIPBL RAD21
5 kbg syndrome 9.2 HDAC8 NIPBL RAD21

Graphical network of the top 20 diseases related to Cornelia De Lange Syndrome 1:



Diseases related to Cornelia De Lange Syndrome 1

Symptoms & Phenotypes for Cornelia De Lange Syndrome 1

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
low-set ears
sensorineural hearing loss
conductive hearing loss to due otitis media

Head And Neck Eyes:
ptosis
myopia
synophrys
long curly eyelashes

Head And Neck Teeth:
widely spaced teeth
late-erupting teeth

Head And Neck Head:
microcephaly
brachycephaly

Abdomen Gastroin testinal:
gastroesophageal reflux
pyloric stenosis

Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Skin:
cutis marmorata
single transverse palmar crease

Skeletal Limbs:
phocomelia
limited elbow extension
dislocation of the radial head

Head And Neck Mouth:
cleft lip/palate
thin upper lip
high arched palate
downturned corners of the mouth

Neurologic Central Nervous System:
mental retardation
language delay
hypertonicity

Genitourinary External Genitalia Male:
hypoplastic male genitalia

Skeletal Feet:
syndactyly of toes 2 and 3

Head And Neck Neck:
short neck

Neurologic Behavioral Psychiatric Manifestations:
self-injurious behavior

Head And Neck Nose:
depressed nasal bridge
anteverted nostrils

Growth Height:
short stature
prenatal growth retardation
specific growth curves are available

Head And Neck Face:
long philtrum
micrognathia

Respiratory Lung:
congenital diaphragmatic hernia
pneumonia

Skeletal Hands:
oligodactyly
single transverse palmar crease
fifth finger clinodactyly
proximally placed thumbs

Skin Nails Hair Hair:
hirsutism
low posterior hair line

Cardiovascular Heart:
congenital heart defect

Chest Breasts:
small nipples

Genitourinary Kidneys:
structural anomalies of the renal tract
absent/poor corticomedullary differentiation (some patients)
pelvic dilation (some patients)
vesicoureteral reflux (rare)
small kidney (rare)
more
Voice:
low-pitched, growling cry in infancy


Clinical features from OMIM:

122470

Human phenotypes related to Cornelia De Lange Syndrome 1:

31 (show top 50) (show all 80)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 low-set ears 31 HP:0000369
3 short neck 31 HP:0000470
4 ptosis 31 HP:0000508
5 nystagmus 31 HP:0000639
6 intellectual disability 31 HP:0001249
7 self-injurious behavior 31 HP:0100716
8 inguinal hernia 31 HP:0000023
9 widely spaced teeth 31 HP:0000687
10 behavioral abnormality 31 HP:0000708
11 delayed skeletal maturation 31 HP:0002750
12 depressed nasal bridge 31 HP:0005280
13 delayed speech and language development 31 HP:0000750
14 microcephaly 31 HP:0000252
15 sensorineural hearing impairment 31 HP:0000407
16 anteverted nares 31 HP:0000463
17 optic atrophy 31 HP:0000648
18 short stature 31 HP:0004322
19 hypertonia 31 HP:0001276
20 gastroesophageal reflux 31 HP:0002020
21 proteinuria 31 occasional (7.5%) HP:0000093
22 brachycephaly 31 HP:0000248
23 cleft palate 31 HP:0000175
24 long philtrum 31 HP:0000343
25 micrognathia 31 HP:0000347
26 ectopic kidney 31 HP:0000086
27 strabismus 31 HP:0000486
28 delayed eruption of teeth 31 HP:0000684
29 micromelia 31 HP:0002983
30 cryptorchidism 31 HP:0000028
31 short sternum 31 HP:0000879
32 intrauterine growth retardation 31 HP:0001511
33 low posterior hairline 31 HP:0002162
34 high, narrow palate 31 HP:0002705
35 myopia 31 HP:0000545
36 thrombocytopenia 31 HP:0001873
37 hypospadias 31 HP:0000047
38 clinodactyly of the 5th finger 31 HP:0004209
39 conductive hearing impairment 31 HP:0000405
40 downturned corners of mouth 31 HP:0002714
41 vesicoureteral reflux 31 occasional (7.5%) HP:0000076
42 renal hypoplasia 31 occasional (7.5%) HP:0000089
43 choanal atresia 31 HP:0000453
44 ventricular septal defect 31 HP:0001629
45 thin upper lip vermilion 31 HP:0000219
46 highly arched eyebrow 31 HP:0002553
47 curly eyelashes 31 HP:0007665
48 pyloric stenosis 31 HP:0002021
49 proptosis 31 HP:0000520
50 long eyelashes 31 HP:0000527

Drugs & Therapeutics for Cornelia De Lange Syndrome 1

Drugs for Cornelia De Lange Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propranolol Approved, Investigational Phase 2, Phase 3 525-66-6 4946
2 Adrenergic Agents Phase 2, Phase 3
3 Adrenergic Antagonists Phase 2, Phase 3
4 Adrenergic beta-Antagonists Phase 2, Phase 3
5 Anti-Arrhythmia Agents Phase 2, Phase 3
6 Antihypertensive Agents Phase 2, Phase 3
7 Neurotransmitter Agents Phase 2, Phase 3
8 Vasodilator Agents Phase 2, Phase 3
9
Ciprofloxacin Approved, Investigational 85721-33-1 2764
10
Everolimus Approved 159351-69-6 6442177
11
Sirolimus Approved, Investigational 53123-88-9 46835353 6436030 5284616
12
Amiodarone Approved, Investigational 1951-25-3 2157
13
Digoxin Approved 20830-75-5 2724385 30322
14
Metoprolol Approved, Investigational 51384-51-1, 37350-58-6 4171
15
Verapamil Approved 52-53-9 2520
16 Anti-Bacterial Agents
17 Anti-Infective Agents
18 Cystatins
19 Cytochrome P-450 CYP1A2 Inhibitors
20 Cytochrome P-450 Enzyme Inhibitors
21 Topoisomerase Inhibitors
22 Adrenergic beta-1 Receptor Antagonists
23 Autonomic Agents
24 calcium channel blockers
25 Calcium, Dietary
26 Cytochrome P-450 CYP2C9 Inhibitors
27 Cytochrome P-450 CYP2D6 Inhibitors
28 Cytochrome P-450 CYP3A Inhibitors
29 Diuretics, Potassium Sparing
30 Peripheral Nervous System Agents
31 Potassium Channel Blockers
32 Protective Agents
33 Sodium Channel Blockers
34 Sympatholytics
35 leucine Nutraceutical
36 Cola Nutraceutical

Interventional clinical trials:

(show all 14)

# Name Status NCT ID Phase Drugs
1 Somnodent vs Herbst in Mild and Moderate OSA Patients Recruiting NCT02724865 Phase 4
2 The Effects of Propranolol on Fear of Tooth or Molar Extraction Recruiting NCT02268357 Phase 2, Phase 3 Propranolol
3 RCT: Effectiveness of a Microscope During Dental Root Apical Surgery Unknown status NCT01759069
4 Combined Nutrient Intake and Muscle Protein Synthesis Completed NCT01239277
5 MRI Study After Arterial Switch Operation in Patients With Transposition of the Great Arteries Completed NCT01916499
6 Evaluation of Autonomic Function in Individuals With Cornelia de Lange Syndrome (CdLS) Recruiting NCT03113877
7 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
8 Pilot Study of a National Screening Programme for Bowel Cancer in Norway Recruiting NCT01538550
9 Post-Market Clinical-Follow-Up Study of Suprasorb® C Collagen Wound Dressing Recruiting NCT03444597
10 Pharmacokinetics of Ciprofloxacin in Critically Ill Patients Recruiting NCT03016845
11 Benefit of Dual-chamber Pacing With Closed Loop Stimulation (CLS) in Tilt-induced Cardioinhibitory Reflex Syncope Recruiting NCT02324920
12 OPTIMIZE IDE for the Treatment of ACS Recruiting NCT03190473
13 PRESSUREwire Study Recruiting NCT02935088
14 Acute Cardioversion Versus Wait And See-approach for Symptomatic Atrial Fibrillation in the Emergency Department Recruiting NCT02248753 Pharmacological cardioversion - Flecainide;Metoprolol;Verapamil;Digoxin;Pharmacological cardioversion - Amiodarone

Search NIH Clinical Center for Cornelia De Lange Syndrome 1

Genetic Tests for Cornelia De Lange Syndrome 1

Genetic tests related to Cornelia De Lange Syndrome 1:

# Genetic test Affiliating Genes
1 De Lange Syndrome 28 HDAC8 RAD21
2 Cornelia De Lange Syndrome 1 28 NIPBL

Anatomical Context for Cornelia De Lange Syndrome 1

MalaCards organs/tissues related to Cornelia De Lange Syndrome 1:

38
Kidney, Colon, Heart

Publications for Cornelia De Lange Syndrome 1

Articles related to Cornelia De Lange Syndrome 1:

# Title Authors Year
1
Self-injurious behaviour in Cornelia de Lange syndrome: 1. Prevalence and phenomenology. ( 19522788 )
2009

Variations for Cornelia De Lange Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Cornelia De Lange Syndrome 1:

71 (show all 38)
# Symbol AA change Variation ID SNP ID
1 NIPBL p.Cys1311Arg VAR_019519
2 NIPBL p.Leu1348Arg VAR_019520
3 NIPBL p.Tyr2430Cys VAR_019521 rs121918265
4 NIPBL p.Ala1246Gly VAR_021598 rs121918268
5 NIPBL p.Leu1312Pro VAR_021599
6 NIPBL p.Arg1789Leu VAR_021600
7 NIPBL p.Asp1803Val VAR_021601
8 NIPBL p.Arg1856Thr VAR_021602
9 NIPBL p.Arg2298Cys VAR_021603 rs80358376
10 NIPBL p.Arg2298His VAR_021604 rs587784024
11 NIPBL p.Gly2312Arg VAR_021605
12 NIPBL p.Gly2381Ala VAR_021606
13 NIPBL p.Ala2390Thr VAR_021607 rs587784036
14 NIPBL p.Tyr2440His VAR_021608
15 NIPBL p.Gly2081Ala VAR_064545 rs587784000
16 NIPBL p.Ser2090Ile VAR_064546
17 NIPBL p.Leu2150Pro VAR_064547
18 NIPBL p.Gly15Arg VAR_072996
19 NIPBL p.Pro29Gln VAR_072997
20 NIPBL p.Asn70Ile VAR_072998
21 NIPBL p.Ser111Thr VAR_073000
22 NIPBL p.Ala179Ser VAR_073001
23 NIPBL p.Ala179Thr VAR_073002 rs142923613
24 NIPBL p.Pro192Leu VAR_073003
25 NIPBL p.Asp246Gly VAR_073004 rs587784042
26 NIPBL p.Leu254Val VAR_073005
27 NIPBL p.Pro351Thr VAR_073006
28 NIPBL p.Lys357Asn VAR_073007
29 NIPBL p.Arg868Gln VAR_073008 rs149629686
30 NIPBL p.Glu1207Lys VAR_073009
31 NIPBL p.His1343Pro VAR_073010
32 NIPBL p.Val1441Leu VAR_073011 rs727503769
33 NIPBL p.Val1625Phe VAR_073012
34 NIPBL p.Ile1637Leu VAR_073013
35 NIPBL p.Asn1722His VAR_073014
36 NIPBL p.Cys2091Phe VAR_073015
37 NIPBL p.Gly2312Val VAR_073017 rs587784025
38 NIPBL p.Asp2433Asn VAR_073018

ClinVar genetic disease variations for Cornelia De Lange Syndrome 1:

6 (show top 50) (show all 259)
# Gene Variation Type Significance SNP ID Assembly Location
1 NIPBL NM_133433.3(NIPBL): c.2479_2480delAG (p.Arg827Glyfs) deletion Pathogenic rs398124465 GRCh37 Chromosome 5, 36985761: 36985762
2 NIPBL NM_133433.3(NIPBL): c.2602C> T (p.Arg868Ter) single nucleotide variant Pathogenic rs398124466 GRCh37 Chromosome 5, 36985884: 36985884
3 NIPBL NM_015384.4(NIPBL): c.2626dupG (p.Asp876Glyfs) duplication Pathogenic rs398124467 GRCh37 Chromosome 5, 36985908: 36985908
4 NIPBL NM_015384.4(NIPBL): c.5440C> T (p.Arg1814Ter) single nucleotide variant Pathogenic rs80358362 GRCh37 Chromosome 5, 37022358: 37022358
5 NIPBL NM_015384.4(NIPBL): c.7047T> G (p.Tyr2349Ter) single nucleotide variant Pathogenic rs398124470 GRCh37 Chromosome 5, 37051973: 37051973
6 NIPBL NM_133433.3(NIPBL): c.7219C> T (p.Arg2407Ter) single nucleotide variant Pathogenic rs398124471 GRCh37 Chromosome 5, 37052624: 37052624
7 NIPBL NM_133433.3(NIPBL): c.8377C> T (p.Arg2793Ter) single nucleotide variant Pathogenic rs398124474 GRCh37 Chromosome 5, 37064956: 37064956
8 NIPBL NM_133433.3(NIPBL): c.133C> T (p.Arg45Ter) single nucleotide variant Pathogenic rs80358367 GRCh37 Chromosome 5, 36955642: 36955642
9 NIPBL NM_015384.4(NIPBL): c.1445_1448delGAGA (p.Arg482Asnfs) deletion Pathogenic rs80358382 GRCh37 Chromosome 5, 36976454: 36976457
10 NIPBL NM_015384.4(NIPBL): c.192delG (p.Gln64Hisfs) deletion Pathogenic rs80358364 GRCh37 Chromosome 5, 36955701: 36955701
11 NIPBL NM_133433.3(NIPBL): c.3445C> T (p.Arg1149Ter) single nucleotide variant Pathogenic rs80358374 GRCh37 Chromosome 5, 37000615: 37000615
12 NIPBL NM_015384.4(NIPBL): c.4285_4294delGAACTACAGT (p.Glu1429Cysfs) deletion Pathogenic rs80358386 GRCh37 Chromosome 5, 37008155: 37008164
13 NIPBL NM_133433.3(NIPBL): c.4511T> A (p.Leu1504Ter) single nucleotide variant Pathogenic rs80358369 GRCh37 Chromosome 5, 37010278: 37010278
14 NIPBL NM_015384.4(NIPBL): c.4806_4807delGA (p.Glu1602Aspfs) deletion Pathogenic rs80358372 GRCh37 Chromosome 5, 37017150: 37017151
15 NIPBL NM_133433.3(NIPBL): c.5366G> A (p.Arg1789Gln) single nucleotide variant Likely pathogenic rs80358380 GRCh37 Chromosome 5, 37022190: 37022190
16 NIPBL NM_133433.3(NIPBL): c.5456G> A (p.Arg1819Gln) single nucleotide variant Likely pathogenic rs80358366 GRCh37 Chromosome 5, 37022374: 37022374
17 NIPBL NM_133433.3(NIPBL): c.5566A> G (p.Arg1856Gly) single nucleotide variant Likely pathogenic rs80358373 GRCh37 Chromosome 5, 37022484: 37022484
18 NIPBL NM_133433.3(NIPBL): c.585C> G (p.Tyr195Ter) single nucleotide variant Pathogenic rs80358360 GRCh37 Chromosome 5, 36962351: 36962351
19 NIPBL NM_133433.3(NIPBL): c.6631G> T (p.Glu2211Ter) single nucleotide variant Pathogenic rs80358363 GRCh37 Chromosome 5, 37048645: 37048645
20 NIPBL NM_015384.4(NIPBL): c.6641_6647delATCTATA (p.Asn2214Ilefs) deletion Pathogenic rs80358361 GRCh37 Chromosome 5, 37048655: 37048661
21 NIPBL NM_133433.3(NIPBL): c.6892C> G (p.Arg2298Gly) single nucleotide variant Pathogenic rs80358376 GRCh37 Chromosome 5, 37049341: 37049341
22 NIPBL NM_133433.3(NIPBL): c.7301A> G (p.Asn2434Ser) single nucleotide variant Likely pathogenic rs80358384 GRCh37 Chromosome 5, 37057325: 37057325
23 NIPBL NM_133433.3(NIPBL): c.7327C> T (p.Gln2443Ter) single nucleotide variant Pathogenic rs80358370 GRCh37 Chromosome 5, 37057351: 37057351
24 NIPBL NM_133433.3(NIPBL): c.7789delC (p.Leu2597Cysfs) deletion Pathogenic rs80358368 GRCh37 Chromosome 5, 37061049: 37061049
25 NIPBL NM_133433.3(NIPBL): c.7806_7807insT (p.Asn2603Terfs) insertion Pathogenic rs80358371 GRCh37 Chromosome 5, 37061066: 37061066
26 NIPBL NM_133433.3(NIPBL): c.3G> T (p.Met1Ile) single nucleotide variant Pathogenic rs587783937 GRCh37 Chromosome 5, 36953801: 36953801
27 NIPBL NM_133433.3(NIPBL): c.64+1G> A single nucleotide variant Pathogenic rs587784009 GRCh37 Chromosome 5, 36953863: 36953863
28 NIPBL NM_133433.3(NIPBL): c.64+3A> C single nucleotide variant Pathogenic rs587784010 GRCh37 Chromosome 5, 36953865: 36953865
29 NIPBL NM_133433.3(NIPBL): c.64+5G> A single nucleotide variant Likely pathogenic rs587784011 GRCh37 Chromosome 5, 36953867: 36953867
30 NIPBL NM_133433.3(NIPBL): c.65-5A> G single nucleotide variant Likely pathogenic rs587784012 GRCh37 Chromosome 5, 36955569: 36955569
31 NIPBL NM_133433.3(NIPBL): c.86delC (p.Pro29Hisfs) deletion Pathogenic rs587784060 GRCh37 Chromosome 5, 36955595: 36955595
32 NIPBL NM_133433.3(NIPBL): c.145G> T (p.Glu49Ter) single nucleotide variant Pathogenic rs587783886 GRCh38 Chromosome 5, 36955552: 36955552
33 NIPBL NM_015384.4(NIPBL): c.201_212delTAGCCTCAACCA (p.His67_Asn70del) deletion Likely pathogenic rs587783893 GRCh38 Chromosome 5, 36955608: 36955619
34 NIPBL NM_133433.3(NIPBL): c.206T> C (p.Leu69Pro) single nucleotide variant Likely pathogenic rs587783895 GRCh38 Chromosome 5, 36955613: 36955613
35 NIPBL NM_015384.4(NIPBL): c.310_317delCCTAATGT (p.Pro104Phefs) deletion Pathogenic rs587783917 GRCh37 Chromosome 5, 36958285: 36958292
36 NIPBL NM_133433.3(NIPBL): c.345A> G (p.Arg115=) single nucleotide variant Likely pathogenic rs587783922 GRCh37 Chromosome 5, 36958320: 36958320
37 NIPBL NM_133433.3(NIPBL): c.358+1G> T single nucleotide variant Pathogenic rs587783927 GRCh37 Chromosome 5, 36958334: 36958334
38 NIPBL NM_133433.3(NIPBL): c.358+5G> C single nucleotide variant Likely pathogenic rs587783928 GRCh37 Chromosome 5, 36958338: 36958338
39 NIPBL NM_015384.4(NIPBL): c.456delC (p.Ser153Alafs) deletion Pathogenic rs587783951 GRCh37 Chromosome 5, 36961683: 36961683
40 NIPBL NM_133433.3(NIPBL): c.598C> T (p.Gln200Ter) single nucleotide variant Pathogenic rs587783988 GRCh37 Chromosome 5, 36962364: 36962364
41 NIPBL NM_133433.3(NIPBL): c.610+1G> A single nucleotide variant Pathogenic rs587783993 GRCh37 Chromosome 5, 36962377: 36962377
42 NIPBL NM_133433.3(NIPBL): c.737A> G (p.Asp246Gly) single nucleotide variant Pathogenic rs587784042 GRCh37 Chromosome 5, 36971104: 36971104
43 NIPBL NM_133433.3(NIPBL): c.771+1G> A single nucleotide variant Pathogenic rs587784048 GRCh38 Chromosome 5, 36971037: 36971037
44 NIPBL NM_133433.3(NIPBL): c.772-1G> A single nucleotide variant Pathogenic rs587784049 GRCh37 Chromosome 5, 36972046: 36972046
45 NIPBL NM_133433.3(NIPBL): c.869-1G> A single nucleotide variant Pathogenic rs587784059 GRCh37 Chromosome 5, 36975877: 36975877
46 NIPBL NM_133433.3(NIPBL): c.892C> T (p.Gln298Ter) single nucleotide variant Pathogenic rs587784062 GRCh37 Chromosome 5, 36975901: 36975901
47 NIPBL NM_015384.4(NIPBL): c.892delC (p.Gln298Asnfs) deletion Pathogenic rs587784063 GRCh37 Chromosome 5, 36975901: 36975901
48 NIPBL NM_133433.3(NIPBL): c.922C> T (p.Arg308Ter) single nucleotide variant Pathogenic rs587784065 GRCh38 Chromosome 5, 36975829: 36975829
49 NIPBL NM_015384.4(NIPBL): c.1003delG (p.Glu335Lysfs) deletion Pathogenic rs587783877 GRCh38 Chromosome 5, 36975910: 36975910
50 NIPBL NM_015384.4(NIPBL): c.1033_1036delTATG (p.Tyr345Ilefs) deletion Pathogenic rs587783878 GRCh38 Chromosome 5, 36975940: 36975943

Expression for Cornelia De Lange Syndrome 1

Search GEO for disease gene expression data for Cornelia De Lange Syndrome 1.

Pathways for Cornelia De Lange Syndrome 1

Pathways related to Cornelia De Lange Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.04 NIPBL RAD21

GO Terms for Cornelia De Lange Syndrome 1

Cellular components related to Cornelia De Lange Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.35 HDAC8 KMT2A NIPBL RAD21 TAF6
2 chromatin GO:0000785 9.16 NIPBL RAD21
3 MLL1 complex GO:0071339 8.62 KMT2A TAF6

Biological processes related to Cornelia De Lange Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription by RNA polymerase II GO:0006366 9.33 KMT2A RAD21 TAF6
2 sister chromatid cohesion GO:0007062 8.96 HDAC8 RAD21
3 cognition GO:0050890 8.62 KMT2A NIPBL

Molecular functions related to Cornelia De Lange Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 8.92 HDAC8 KMT2A NIPBL RAD21

Sources for Cornelia De Lange Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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